SSR4
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Also known as TRAPD
Summary
SSR4 (signal sequence receptor subunit 4, HGNC:11326) is a protein-coding gene on chromosome Xq28, encoding Translocon-associated protein subunit delta (P51571). TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins.
This gene encodes the delta subunit of the translocon-associated protein complex which is involved in translocating proteins across the endoplasmic reticulum membrane. The encoded protein is located in the Xq28 region and is arranged in a compact head-to-head manner with the isocitrate dehydrogenase 3 (NAD+) gamma gene and both genes are driven by a CpG-embedded bidirectional promoter. Alternate splicing results in multiple transcript variants.
Source: NCBI Gene 6748 — RefSeq curated summary.
At a glance
- Gene–disease (curated): SSR4-congenital disorder of glycosylation (Strong, GenCC)
- Clinical variants (ClinVar): 181 total — 12 pathogenic, 6 likely-pathogenic
- Phenotypes (HPO): 36
- Druggable target: yes
- MANE Select transcript:
NM_006280
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11326 |
| Approved symbol | SSR4 |
| Name | signal sequence receptor subunit 4 |
| Location | Xq28 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TRAPD |
| Ensembl gene | ENSG00000180879 |
| Ensembl biotype | protein_coding |
| OMIM | 300090 |
| Entrez | 6748 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 10 protein_coding, 7 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000320857, ENST00000370085, ENST00000370086, ENST00000370087, ENST00000447375, ENST00000460616, ENST00000471724, ENST00000471880, ENST00000482902, ENST00000485612, ENST00000486204, ENST00000491833, ENST00000854607, ENST00000854608, ENST00000854609, ENST00000939443, ENST00000939444, ENST00000969382
RefSeq mRNA: 3 — MANE Select: NM_006280
NM_001204526, NM_001204527, NM_006280
CCDS: CCDS14731
Canonical transcript exons
ENST00000370086 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001451715 | 153794668 | 153794754 |
| ENSE00001915160 | 153798329 | 153798499 |
| ENSE00003571167 | 153797725 | 153797814 |
| ENSE00003591794 | 153796434 | 153796552 |
| ENSE00003607970 | 153797458 | 153797532 |
| ENSE00003707581 | 153798071 | 153798136 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.69.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 395.9922 / max 6254.3090, expressed in 1828 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 198106 | 394.5811 | 1828 |
| 198104 | 1.4110 | 904 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pituitary gland | UBERON:0000007 | 99.69 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.67 | gold quality |
| body of pancreas | UBERON:0001150 | 99.62 | gold quality |
| type B pancreatic cell | CL:0000169 | 99.57 | gold quality |
| seminal vesicle | UBERON:0000998 | 99.55 | gold quality |
| trachea | UBERON:0003126 | 99.52 | gold quality |
| pylorus | UBERON:0001166 | 99.42 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 99.40 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 99.38 | gold quality |
| minor salivary gland | UBERON:0001830 | 99.38 | gold quality |
| pancreas | UBERON:0001264 | 99.35 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.32 | gold quality |
| corpus epididymis | UBERON:0004359 | 99.31 | gold quality |
| stromal cell of endometrium | CL:0002255 | 99.28 | gold quality |
| islet of Langerhans | UBERON:0000006 | 99.27 | gold quality |
| body of stomach | UBERON:0001161 | 99.27 | gold quality |
| endocervix | UBERON:0000458 | 99.25 | gold quality |
| spleen | UBERON:0002106 | 99.24 | gold quality |
| left adrenal gland | UBERON:0001234 | 99.23 | gold quality |
| periodontal ligament | UBERON:0008266 | 99.23 | gold quality |
| mouth mucosa | UBERON:0003729 | 99.21 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 99.20 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 99.20 | gold quality |
| right adrenal gland | UBERON:0001233 | 99.18 | gold quality |
| bone marrow cell | CL:0002092 | 99.17 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 99.17 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 99.13 | gold quality |
| left coronary artery | UBERON:0001626 | 99.12 | gold quality |
| granulocyte | CL:0000094 | 99.11 | gold quality |
| right coronary artery | UBERON:0001625 | 99.11 | gold quality |
Single-cell (SCXA)
Detected in 35 experiment(s), a significant marker in 31.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-126 | yes | 5380.83 |
| E-MTAB-6653 | yes | 4952.50 |
| E-HCAD-15 | yes | 4864.08 |
| E-MTAB-10432 | yes | 4290.67 |
| E-CURD-46 | yes | 4217.89 |
| E-CURD-88 | yes | 3645.61 |
| E-MTAB-6308 | yes | 3641.26 |
| E-MTAB-8410 | yes | 3423.26 |
| E-HCAD-4 | yes | 3255.67 |
| E-MTAB-8322 | yes | 3187.86 |
| E-HCAD-36 | yes | 2832.48 |
| E-GEOD-135922 | yes | 2736.98 |
| E-GEOD-125970 | yes | 2629.46 |
| E-HCAD-1 | yes | 2531.12 |
| E-HCAD-11 | yes | 2482.85 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 3)
- results of this study implicate TRAPD as a candidate gene with potential functions that might be associated with ultraviolet-induced melanomagenesis and metastasis (PMID:15057039)
- We now report eight affected males with either de novo (4) or inherited (4) loss of function mutations in SSR4. (PMID:26264460)
- Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications. (PMID:33300232)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ssr4 | ENSDARG00000019444 |
| mus_musculus | Ssr4 | ENSMUSG00000002014 |
| rattus_norvegicus | Ssr4 | ENSRNOG00000053172 |
| drosophila_melanogaster | Tapdelta | FBGN0021795 |
| caenorhabditis_elegans | WBGENE00013238 |
Protein
Protein identifiers
Translocon-associated protein subunit delta — P51571 (reviewed: P51571)
Alternative names: Signal sequence receptor subunit delta
All UniProt accessions (2): A6NLM8, P51571
UniProt curated annotations — full annotation on UniProt →
Function. TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins.
Subunit / interactions. Heterotetramer of TRAP-alpha, TRAP-beta, TRAP-delta and TRAP-gamma.
Subcellular location. Endoplasmic reticulum membrane.
Disease relevance. Congenital disorder of glycosylation 1Y (CDG1Y) [MIM:300934] A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the TRAP-delta family.
RefSeq proteins (3): NP_001191455, NP_001191456, NP_006271* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008855 | TRAP-delta | Family |
Pfam: PF05404
UniProt features (9 total): topological domain 2, signal peptide 1, chain 1, transmembrane region 1, disulfide bond 1, cross-link 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9N9J | ELECTRON MICROSCOPY | 3.2 |
| 9YGY | ELECTRON MICROSCOPY | 4.1 |
| 8B6L | ELECTRON MICROSCOPY | 7.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P51571-F1 | 89.09 | 0.62 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 73
Disulfide bonds (1): 26–57
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-1799339 | SRP-dependent cotranslational protein targeting to membrane |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-72766 | Translation |
MSigDB gene sets: 248 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GRUETZMANN_PANCREATIC_CANCER_DN, MCLACHLAN_DENTAL_CARIES_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, XU_GH1_AUTOCRINE_TARGETS_UP, ENK_UV_RESPONSE_KERATINOCYTE_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MATTIOLI_MGUS_VS_PCL, GOBP_PROTEIN_TARGETING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, WTGAAAT_UNKNOWN, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE
GO Biological Process (0):
GO Molecular Function (0):
GO Cellular Component (6): endoplasmic reticulum (GO:0005783), Sec61 translocon complex (GO:0005784), endomembrane system (GO:0012505), extracellular exosome (GO:0070062), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Translation | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| translocon complex | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| extracellular vesicle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
Protein interactions and networks
STRING
1426 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SSR4 | SSR1 | P43307 | 978 |
| SSR4 | SSR3 | Q9UNL2 | 978 |
| SSR4 | SSR2 | P43308 | 960 |
| SSR4 | HECW1 | Q76N89 | 887 |
| SSR4 | IDH3G | P51553 | 825 |
| SSR4 | DDOST | P39656 | 701 |
| SSR4 | IDH2 | P48735 | 638 |
| SSR4 | IDH1 | O75874 | 558 |
| SSR4 | DERL1 | Q9BUN8 | 524 |
| SSR4 | STT3A | P46977 | 517 |
| SSR4 | DVL1 | O14640 | 512 |
| SSR4 | STT3B | Q8TCJ2 | 508 |
| SSR4 | SOD1 | P00441 | 480 |
| SSR4 | PPIB | P23284 | 480 |
| SSR4 | KRTCAP2 | Q8N6L1 | 476 |
IntAct
172 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| IFT27 | IFT56 | psi-mi:“MI:0914”(association) | 0.690 |
| ILK | HAX1 | psi-mi:“MI:0914”(association) | 0.530 |
| EGFR | NDUFA4 | psi-mi:“MI:0914”(association) | 0.530 |
| RPN1 | APBB1 | psi-mi:“MI:0914”(association) | 0.530 |
| FLVCR1 | TNFRSF10B | psi-mi:“MI:0914”(association) | 0.530 |
| env | PGRMC1 | psi-mi:“MI:0914”(association) | 0.460 |
| GNAT3 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| GPC1 | GANAB | psi-mi:“MI:0915”(physical association) | 0.400 |
| SSR1 | SSR4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SSR4 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| NLGN3 | SSR4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| AATK | DPM1 | psi-mi:“MI:0914”(association) | 0.350 |
| OTUB1 | psi-mi:“MI:0914”(association) | 0.350 | |
| OTUB1 | EPM2A | psi-mi:“MI:0914”(association) | 0.350 |
| MAD2L2 | DCTN3 | psi-mi:“MI:0914”(association) | 0.350 |
| TUBA1C | TCP11L2 | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | psi-mi:“MI:0914”(association) | 0.350 | |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| psi-mi:“MI:0914”(association) | 0.350 | ||
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (293): SSR4 (Affinity Capture-MS), SSR4 (Affinity Capture-MS), SSR4 (Affinity Capture-MS), SSR4 (Affinity Capture-MS), SSR4 (Affinity Capture-MS), SSR4 (Affinity Capture-MS), ARL8B (Co-fractionation), IPO9 (Co-fractionation), KDSR (Co-fractionation), MAGT1 (Co-fractionation), NCLN (Co-fractionation), RPN2 (Co-fractionation), SSR4 (Co-fractionation), SSR4 (Co-fractionation), SSR4 (Co-fractionation)
ESM2 similar proteins: A0A1L8FM16, A0A1L8H814, A2BD92, A4FUD4, A7E2V1, B0BN86, B1AUE5, F1QR43, O00623, O88177, O95870, P17152, P51571, Q07984, Q08CZ0, Q0VEJ0, Q1JPD2, Q28DH9, Q3B8H3, Q3ZC98, Q3ZT31, Q4QQS8, Q4QRH7, Q4R8P0, Q58E26, Q5R6S0, Q5R822, Q5RBY5, Q5RCP7, Q5REH6, Q62186, Q66HC5, Q6AXN4, Q6DDX8, Q6DFK1, Q6DFS0, Q6IQC7, Q6MG55, Q7SZC5, Q8BJ71
Diamond homologs: P51571, Q07984, Q2TBX5, Q5REH6, Q62186
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SSR4 | “form complex” | “TRAP complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 189 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| PD-L1(CD274) glycosylation and translocation to plasma membrane | 6 | 23.2× | 3e-05 |
| Maturation of spike protein | 9 | 17.8× | 5e-07 |
| Regulation of CDH1 posttranslational processing and trafficking to plasma membrane | 7 | 17.6× | 3e-05 |
| FCERI mediated MAPK activation | 5 | 12.9× | 2e-03 |
| Maturation of DENV proteins | 8 | 12.6× | 3e-05 |
| SRP-dependent cotranslational protein targeting to membrane | 14 | 10.5× | 4e-08 |
| Regulation of RAS by GAPs | 7 | 10.1× | 6e-04 |
| Negative regulation of MAPK pathway | 5 | 9.9× | 6e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| obsolete protein N-linked glycosylation via asparagine | 5 | 19.7× | 2e-03 |
| extrinsic apoptotic signaling pathway via death domain receptors | 6 | 14.1× | 2e-03 |
| protein N-linked glycosylation | 6 | 9.2× | 9e-03 |
| cytoplasmic translation | 8 | 8.7× | 2e-03 |
| translation | 10 | 6.0× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
181 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 12 |
| Likely pathogenic | 6 |
| Uncertain significance | 54 |
| Likely benign | 42 |
| Benign | 12 |
Top pathogenic / likely-pathogenic (18)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1164036 | NM_006280.3(SSR4):c.261+2_261+8del | Pathogenic |
| 1333191 | NM_006280.3(SSR4):c.269G>A (p.Trp90Ter) | Pathogenic |
| 1452967 | NM_006280.3(SSR4):c.184C>T (p.Gln62Ter) | Pathogenic |
| 209110 | NM_006280.3(SSR4):c.317del (p.Phe106fs) | Pathogenic |
| 2441661 | NM_006280.3(SSR4):c.270G>A (p.Trp90Ter) | Pathogenic |
| 3392483 | NM_006280.3(SSR4):c.68-2A>G | Pathogenic |
| 372143 | NM_006280.3(SSR4):c.187-301_352-15del | Pathogenic |
| 372146 | NM_006280.3(SSR4):c.418-1G>A | Pathogenic |
| 4759492 | NM_006280.3(SSR4):c.68-322_262-46del | Pathogenic |
| 976747 | NM_006280.3(SSR4):c.141dup (p.Val48fs) | Pathogenic |
| 984389 | NM_006280.3(SSR4):c.241C>T (p.Gln81Ter) | Pathogenic |
| 986726 | NM_001204526.1:c.1_185del | Pathogenic |
| 1308630 | NM_006280.3(SSR4):c.418-2A>G | Likely pathogenic |
| 2347022 | NM_006280.3(SSR4):c.67+2T>C | Likely pathogenic |
| 2572630 | NM_006280.3(SSR4):c.235C>T (p.Arg79Ter) | Likely pathogenic |
| 372144 | NM_006280.3(SSR4):c.358_359del (p.Arg120fs) | Likely pathogenic |
| 3893303 | NM_001204526.2(SSR4):c.19+2T>C | Likely pathogenic |
| 4292876 | NM_006280.3(SSR4):c.98del (p.Pro33fs) | Likely pathogenic |
SpliceAI
1356 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:153796429:CGCA:C | acceptor_loss | 1.0000 |
| X:153796430:GCA:G | acceptor_loss | 1.0000 |
| X:153796431:CAGCC:C | acceptor_loss | 1.0000 |
| X:153796432:A:AG | acceptor_gain | 1.0000 |
| X:153796432:A:AT | acceptor_loss | 1.0000 |
| X:153796432:AGCC:A | acceptor_gain | 1.0000 |
| X:153796433:G:GG | acceptor_gain | 1.0000 |
| X:153796433:GCC:G | acceptor_gain | 1.0000 |
| X:153796433:GCCG:G | acceptor_gain | 1.0000 |
| X:153796433:GCCGA:G | acceptor_gain | 1.0000 |
| X:153796548:TCC:T | donor_gain | 1.0000 |
| X:153796548:TCCAG:T | donor_loss | 1.0000 |
| X:153796549:CCAGG:C | donor_loss | 1.0000 |
| X:153796550:CAGGT:C | donor_loss | 1.0000 |
| X:153796551:AGGT:A | donor_loss | 1.0000 |
| X:153796553:G:GG | donor_gain | 1.0000 |
| X:153796553:GT:G | donor_loss | 1.0000 |
| X:153796554:T:A | donor_loss | 1.0000 |
| X:153797452:A:AG | acceptor_gain | 1.0000 |
| X:153797453:C:G | acceptor_gain | 1.0000 |
| X:153797453:CCCA:C | acceptor_loss | 1.0000 |
| X:153797455:CA:C | acceptor_loss | 1.0000 |
| X:153797456:A:AG | acceptor_gain | 1.0000 |
| X:153797456:AGAAC:A | acceptor_loss | 1.0000 |
| X:153797457:G:GG | acceptor_gain | 1.0000 |
| X:153797457:GA:G | acceptor_gain | 1.0000 |
| X:153797457:GAAC:G | acceptor_gain | 1.0000 |
| X:153797457:GAACA:G | acceptor_gain | 1.0000 |
| X:153797702:ACTCT:A | acceptor_gain | 1.0000 |
| X:153797715:C:G | acceptor_gain | 1.0000 |
AlphaMissense
1121 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:153797501:T:A | V77D | 1.000 |
| X:153797474:C:A | A68D | 0.999 |
| X:153797731:T:A | W90R | 0.999 |
| X:153797731:T:C | W90R | 0.999 |
| X:153797733:G:C | W90C | 0.999 |
| X:153797733:G:T | W90C | 0.999 |
| X:153797774:T:A | V104D | 0.999 |
| X:153797780:T:C | F106S | 0.999 |
| X:153797810:G:C | R116T | 0.999 |
| X:153797811:G:C | R116S | 0.999 |
| X:153797811:G:T | R116S | 0.999 |
| X:153796535:T:A | C57S | 0.998 |
| X:153796535:T:C | C57R | 0.998 |
| X:153796536:G:A | C57Y | 0.998 |
| X:153796536:G:C | C57S | 0.998 |
| X:153797468:T:A | L66H | 0.998 |
| X:153797473:G:C | A68P | 0.998 |
| X:153797531:A:C | Q87P | 0.998 |
| X:153797726:T:A | V88E | 0.998 |
| X:153797728:T:C | S89P | 0.998 |
| X:153797807:T:C | L115P | 0.998 |
| X:153798369:C:A | A153D | 0.998 |
| X:153796512:T:C | F49S | 0.997 |
| X:153796530:T:C | L55P | 0.997 |
| X:153797468:T:C | L66P | 0.997 |
| X:153797527:T:G | Y86D | 0.997 |
| X:153797810:G:T | R116M | 0.997 |
| X:153797814:G:C | K117N | 0.997 |
| X:153797814:G:T | K117N | 0.997 |
| X:153798078:G:C | R120T | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1002025388 (X:153798582 G>A), RS1002542494 (X:153796209 C>T), RS1004370317 (X:153797518 G>T), RS1006455913 (X:153796218 C>T), RS1006747489 (X:153792922 A>G), RS1007233517 (X:153792503 C>A), RS1007821461 (X:153794355 C>A,T), RS1008163661 (X:153794663 T>C), RS1009297588 (X:153798302 G>C), RS1009636223 (X:153798551 G>A), RS1010122202 (X:153792972 T>C), RS1010174408 (X:153793374 G>A,C), RS1011367123 (X:153796944 G>A), RS1012580774 (X:153795264 C>T), RS1013479336 (X:153798611 C>A)
Disease associations
OMIM: gene MIM:300090 | disease phenotypes: MIM:300934
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| SSR4-congenital disorder of glycosylation | Strong | X-linked |
Mondo (1): SSR4-congenital disorder of glycosylation (MONDO:0010490)
Orphanet (1): SSR4-CDG (Orphanet:370927)
HPO phenotypes
36 total (30 of 36 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000047 | Hypospadias |
| HP:0000085 | Horseshoe kidney |
| HP:0000154 | Wide mouth |
| HP:0000252 | Microcephaly |
| HP:0000347 | Micrognathia |
| HP:0000400 | Macrotia |
| HP:0000486 | Strabismus |
| HP:0000490 | Deeply set eye |
| HP:0000687 | Widely spaced teeth |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001331 | Absent septum pellucidum |
| HP:0001373 | Joint dislocation |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001508 | Failure to thrive |
| HP:0001626 | Abnormality of the cardiovascular system |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001928 | Abnormality of coagulation |
| HP:0001999 | Abnormal facial shape |
| HP:0002013 | Vomiting |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002098 | Respiratory distress |
| HP:0002518 | Abnormal periventricular white matter morphology |
| HP:0002650 | Scoliosis |
| HP:0003256 | Abnormality of the coagulation cascade |
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295777 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression | 4 |
| bisphenol A | affects expression, increases expression, decreases reaction, increases abundance | 3 |
| Tunicamycin | increases expression | 2 |
| Thapsigargin | increases expression | 2 |
| bisphenol F | increases expression | 1 |
| ginger extract | decreases reaction, increases abundance, increases expression | 1 |
| alpha phellandrene | decreases expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| arsenite | increases reaction, affects binding | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| chloropicrin | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| 2-amino-14,16-dimethyloctadecan-3-ol | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Cocaine | decreases expression | 1 |
| Diuron | decreases expression | 1 |
| Homocysteine | affects cotreatment, affects expression | 1 |
| Isoniazid | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4118569 | Binding | Binding affinity to SSR4 in human NCI-H23 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3IC | Abcam HEK293T SSR4 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: SSR4-congenital disorder of glycosylation
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): SSR4-congenital disorder of glycosylation